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An extended set of ...
An extended set of yeast-based functional assays accurately identifies human disease mutations
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- Sun, Song (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Yang, Fan (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Tan, Guihong (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.
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- Costanzo, Michael (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.
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- Oughtred, Rose (författare)
- Princeton Univ, Lewis Sigler Inst Integrat Genom, Princeton, NJ 08544 USA.
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- Hirschman, Jodi (författare)
- Princeton Univ, Lewis Sigler Inst Integrat Genom, Princeton, NJ 08544 USA.
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- Theesfeld, Chandra L. (författare)
- Princeton Univ, Lewis Sigler Inst Integrat Genom, Princeton, NJ 08544 USA.
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- Bansal, Pritpal (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Sahni, Nidhi (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02215 USA.;Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.;Univ Texas MD Anderson Canc Ctr, Dept Syst Biol, Houston, TX 77030 USA.
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- Yi, Song (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02215 USA.;Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
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- Yu, Analyn (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Tyagi, Tanya (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Tie, Cathy (författare)
- Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.
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- Hill, David E. (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02215 USA.;Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
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- Vidal, Marc (författare)
- Dana Farber Canc Inst, CCSB, Boston, MA 02215 USA.;Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
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- Andrews, Brenda J. (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.
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- Boone, Charles (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.
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- Dolinski, Kara (författare)
- Princeton Univ, Lewis Sigler Inst Integrat Genom, Princeton, NJ 08544 USA.
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- Roth, Frederick P. (författare)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.;Dana Farber Canc Inst, CCSB, Boston, MA 02215 USA.;Canadian Inst Adv Res, Toronto, ON M5G 1Z8, Canada.
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(creator_code:org_t)
- 2016-03-14
- 2016
- Engelska.
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Ingår i: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 26:5, s. 670-680
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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http://genome.cshlp....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- We can now routinely identify coding variants within individual human genomes. A pressing challenge is to determine which variants disrupt the function of disease-associated genes. Both experimental and computational methods exist to predict pathogenicity of human genetic variation. However, a systematic performance comparison between them has been lacking. Therefore, we developed and exploited a panel of 26 yeast-based functional complementation assays to measure the impact of 179 variants (101 disease-and 78 non-disease-associated variants) from 22 human disease genes. Using the resulting reference standard, we show that experimental functional assays in a 1-billion-year diverged model organism can identify pathogenic alleles with significantly higher precision and specificity than current computational methods.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Sun, Song
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Yang, Fan
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Tan, Guihong
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Costanzo, Michae ...
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Oughtred, Rose
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Hirschman, Jodi
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visa fler...
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Theesfeld, Chand ...
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Bansal, Pritpal
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Sahni, Nidhi
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Yi, Song
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Yu, Analyn
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Tyagi, Tanya
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Tie, Cathy
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Hill, David E.
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Vidal, Marc
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Andrews, Brenda ...
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Boone, Charles
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Dolinski, Kara
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Roth, Frederick ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
- Artiklar i publikationen
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Genome Research
- Av lärosätet
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Uppsala universitet